Key Laboratory of Aging and Cancer Biology of Zhejiang Province, Hangzhou Normal University School of Basic Medical Sciences, Hangzhou 311121, China.
Int J Mol Sci. 2022 Sep 4;23(17):10112. doi: 10.3390/ijms231710112.
Endogenous retroviruses (ERVs), deriving from exogenous retroviral infections of germ line cells occurred millions of years ago, represent ~8% of human genome. Most ERVs are highly inactivated because of the accumulation of mutations, insertions, deletions, and/or truncations. However, it is becoming increasingly apparent that ERVs influence host biology through genetic and epigenetic mechanisms under particular physiological and pathological conditions, which provide both beneficial and deleterious effects for the host. For instance, certain ERVs expression is essential for human embryonic development. Whereas abnormal activation of ERVs was found to be involved in numbers of human diseases, such as cancer and neurodegenerative diseases. Therefore, understanding the mechanisms of regulation of ERVs would provide insights into the role of ERVs in health and diseases. Here, we provide an overview of mechanisms of transcriptional regulation of ERVs and their dysregulation in human diseases.
内源性逆转录病毒（ERVs）源自数百万年前生殖细胞中外源逆转录病毒的感染，占人类基因组的~8%。由于突变、插入、缺失和/或截短的积累，大多数 ERV 高度失活。然而，越来越明显的是，ERVs 通过遗传和表观遗传机制在特定的生理和病理条件下影响宿主生物学，这为宿主提供了有益和有害的影响。例如，某些 ERV 的表达对于人类胚胎发育是必不可少的。而 ERV 的异常激活被发现与许多人类疾病有关，如癌症和神经退行性疾病。因此，了解 ERV 调节的机制将有助于深入了解 ERV 在健康和疾病中的作用。在这里，我们概述了 ERV 的转录调控机制及其在人类疾病中的失调。
